Incidental Mutation 'IGL01600:Glt28d2'
ID 92137
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Glt28d2
Ensembl Gene ENSMUSG00000031286
Gene Name glycosyltransferase 28 domain containing 2
Synonyms 4732486J07Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.209) question?
Stock # IGL01600
Quality Score
Status
Chromosome 3
Chromosomal Location 85777156-85794823 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 85779290 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 61 (Y61C)
Ref Sequence ENSEMBL: ENSMUSP00000033643 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033643] [ENSMUST00000154148]
AlphaFold Q8BML3
Predicted Effect probably damaging
Transcript: ENSMUST00000033643
AA Change: Y61C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000033643
Gene: ENSMUSG00000031286
AA Change: Y61C

DomainStartEndE-ValueType
Pfam:Glyco_tran_28_C 3 159 2.6e-31 PFAM
Pfam:Glyco_trans_1_3 4 137 5.8e-9 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125216
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146862
Predicted Effect probably benign
Transcript: ENSMUST00000154148
SMART Domains Protein: ENSMUSP00000116393
Gene: ENSMUSG00000102805

DomainStartEndE-ValueType
Arfaptin 1 227 7.15e-121 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 14 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp7b C A 8: 22,517,541 (GRCm39) probably null Het
Ccr7 A G 11: 99,035,971 (GRCm39) V317A probably benign Het
Dna2 T A 10: 62,786,585 (GRCm39) I111K probably damaging Het
Egflam A G 15: 7,249,245 (GRCm39) S858P probably damaging Het
Kbtbd12 C T 6: 88,595,540 (GRCm39) A97T probably benign Het
Myh4 A G 11: 67,151,015 (GRCm39) E1890G possibly damaging Het
Notch3 C A 17: 32,363,472 (GRCm39) G1197V probably damaging Het
Or4c10b A T 2: 89,712,006 (GRCm39) M279L probably benign Het
Pcdh10 A T 3: 45,333,922 (GRCm39) I79L probably damaging Het
Runx1t1 T A 4: 13,841,871 (GRCm39) V181D probably damaging Het
Snx25 A T 8: 46,569,347 (GRCm39) D183E probably benign Het
Srsf11 G A 3: 157,725,079 (GRCm39) probably benign Het
Tox A G 4: 6,697,585 (GRCm39) V406A probably damaging Het
Vmn2r68 T A 7: 84,871,468 (GRCm39) H605L probably benign Het
Other mutations in Glt28d2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02662:Glt28d2 APN 3 85,779,423 (GRCm39) missense probably damaging 0.97
IGL03235:Glt28d2 APN 3 85,779,109 (GRCm39) missense possibly damaging 0.94
R0579:Glt28d2 UTSW 3 85,779,440 (GRCm39) missense probably damaging 1.00
R4326:Glt28d2 UTSW 3 85,779,393 (GRCm39) nonsense probably null
R6170:Glt28d2 UTSW 3 85,779,248 (GRCm39) missense possibly damaging 0.89
R6798:Glt28d2 UTSW 3 85,779,296 (GRCm39) missense probably benign 0.00
R8853:Glt28d2 UTSW 3 85,779,087 (GRCm39) missense probably benign
R8890:Glt28d2 UTSW 3 85,779,359 (GRCm39) missense possibly damaging 0.64
R9632:Glt28d2 UTSW 3 85,779,059 (GRCm39) missense probably benign 0.13
R9710:Glt28d2 UTSW 3 85,779,059 (GRCm39) missense probably benign 0.13
Posted On 2013-12-09